Canonical Allele Identifier: CA2676328414

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162103911-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103912del , CM000667.2:g.162103912del	GRCh38
NC_000005.9:g.161530918del , CM000667.1:g.161530918del	GRCh37
NC_000005.8:g.161463496del	NCBI36
NG_009290.1:g.41271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.617del
ENST00000361925.9:c.775del	ENSP00000354651.5:p.Val259PhefsTer27
ENST00000522053.2:n.546del
ENST00000523372.2:c.738del
ENST00000638552.1:c.370del	ENSP00000491763.1:p.Val124PhefsTer27
ENST00000638660.1:c.370del	ENSP00000492869.1:p.Val124PhefsTer27
ENST00000638772.1:c.655del	ENSP00000491557.1:p.Val219PhefsTer27
ENST00000638782.1:n.717del
ENST00000638877.1:c.532del
ENST00000639046.1:c.46del	ENSP00000492659.1:p.Val16PhefsTer27
ENST00000639111.2:c.655del	ENSP00000492125.2:p.Val219PhefsTer27
ENST00000639213.2:c.655del MANE Select	ENSP00000491909.2:p.Val219PhefsTer27
ENST00000639278.1:c.583del	ENSP00000491958.1:p.Val195PhefsTer27
ENST00000639384.1:c.655del	ENSP00000491240.1:p.Val219PhefsTer27
ENST00000639424.1:c.107+35806del	ENSP00000491245.1:n.107+35806del
ENST00000639683.1:c.589del	ENSP00000492581.1:p.Val197PhefsTer27
ENST00000639975.1:c.589del	ENSP00000492096.1:p.Val197PhefsTer27
ENST00000640574.1:c.370del	ENSP00000491582.1:p.Val124PhefsTer27
ENST00000640739.1:n.3186del
ENST00000640910.1:c.93del
ENST00000640985.1:c.568del	ENSP00000492293.1:p.Val190PhefsTer27
ENST00000641017.1:c.655del	ENSP00000493461.1:p.Val219PhefsTer27
ENST00000356592.7:c.655del	ENSP00000349000.3:p.Val219PhefsTer27
ENST00000361925.8:c.655del	ENSP00000354651.4:p.Val219PhefsTer27
ENST00000414552.6:c.775del	ENSP00000410732.2:p.Val259PhefsTer27
ENST00000522053.1:c.370del	ENSP00000430182.1:p.Val124PhefsTer27
ENST00000522990.5:c.*257del	ENSP00000430732.1:n.*257del
ENST00000523372.1:c.776del	ENSP00000430124.1:n.776del
NM_000816.3:c.655del	NP_000807.2:p.Val219PhefsTer27
NM_198903.2:c.775del	NP_944493.2:p.Val259PhefsTer27
NM_198904.2:c.655del	NP_944494.1:p.Val219PhefsTer27
NM_001375339.1:c.646del	NP_001362268.1:p.Val216PhefsTer27
NM_001375340.1:c.655del	NP_001362269.1:p.Val219PhefsTer27
NM_001375341.1:c.655del	NP_001362270.1:p.Val219PhefsTer27
NM_001375342.1:c.655del	NP_001362271.1:p.Val219PhefsTer27
NM_001375343.1:c.775del	NP_001362272.1:p.Val259PhefsTer27
NM_001375344.1:c.655del	NP_001362273.1:p.Val219PhefsTer27
NM_001375345.1:c.589del	NP_001362274.1:p.Val197PhefsTer27
NM_001375346.1:c.589del	NP_001362275.1:p.Val197PhefsTer27
NM_001375347.1:c.568del	NP_001362276.1:p.Val190PhefsTer27
NM_001375348.1:c.235del	NP_001362277.1:p.Val79PhefsTer27
NM_001375349.1:c.370del	NP_001362278.1:p.Val124PhefsTer27
NM_001375350.1:c.235del	NP_001362279.1:p.Val79PhefsTer27
NM_198904.3:c.655del	NP_944494.1:p.Val219PhefsTer27
NM_198904.4:c.655del MANE Select	NP_944494.1:p.Val219PhefsTer27